Mutagenetix > Incidental Mutation

Incidental Mutation 'R7116:Pramel5'

551759

Institutional Source

Beutler Lab

Gene Symbol

Pramel5

Ensembl Gene

ENSMUSG00000036749

Gene Name

PRAME like 5

Synonyms

OTTMUSG00000010540

MMRRC Submission

045207-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R7116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143997203-144007036 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 144000451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 42 (D42N)

Ref Sequence

ENSEMBL: ENSMUSP00000044222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035757] [ENSMUST00000105752]

AlphaFold

Q7TPY4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035757
AA Change: D42N

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000044222
Gene: ENSMUSG00000036749
AA Change: D42N

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	224	411	1e-11	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105752
AA Change: D42N

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101378
Gene: ENSMUSG00000036749
AA Change: D42N

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	224	411	1e-11	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,251,751 (GRCm39)	S109P	probably damaging	Het
Afg3l1	T	G	8: 124,216,601 (GRCm39)	L280R	probably damaging	Het
Akap13	T	A	7: 75,369,943 (GRCm39)	S129T	probably benign	Het
Ankrd11	A	G	8: 123,622,869 (GRCm39)	S328P	probably damaging	Het
Aox3	A	T	1: 58,192,689 (GRCm39)	E554D	probably benign	Het
Bcl11a	T	C	11: 24,113,839 (GRCm39)	V394A	probably damaging	Het
Cass4	A	G	2: 172,269,889 (GRCm39)	Y657C	unknown	Het
Ccdc88a	C	T	11: 29,454,051 (GRCm39)	A1738V	probably benign	Het
Cfap74	T	C	4: 155,539,518 (GRCm39)	F948L	unknown	Het
Chgb	A	T	2: 132,623,237 (GRCm39)		probably benign	Het
Coro1c	C	T	5: 113,990,267 (GRCm39)	W138*	probably null	Het
Dgkb	A	G	12: 38,031,989 (GRCm39)	Q17R	probably benign	Het
Esco2	A	G	14: 66,064,006 (GRCm39)	Y393H	probably damaging	Het
Eya3	T	A	4: 132,422,110 (GRCm39)	D228E	probably benign	Het
Fat2	T	C	11: 55,173,162 (GRCm39)	D2517G	probably damaging	Het
Fry	T	A	5: 150,319,334 (GRCm39)		probably null	Het
Gal3st2b	A	T	1: 93,868,498 (GRCm39)	Q243L	possibly damaging	Het
Gimap9	C	T	6: 48,654,989 (GRCm39)	A192V	probably benign	Het
Glg1	T	A	8: 111,905,589 (GRCm39)	Q564L	probably benign	Het
H2-Aa	A	T	17: 34,502,601 (GRCm39)	Y188*	probably null	Het
Hira	T	C	16: 18,730,864 (GRCm39)	Y188H	probably damaging	Het
Ighv8-8	C	T	12: 115,257,814 (GRCm39)	D76N	probably benign	Het
Irf6	T	C	1: 192,849,905 (GRCm39)	F276L	probably damaging	Het
Itpr1	T	C	6: 108,458,229 (GRCm39)	C2000R	probably damaging	Het
Jakmip3	T	C	7: 138,621,979 (GRCm39)	V293A	possibly damaging	Het
Kcnh7	A	G	2: 62,707,614 (GRCm39)	V132A	probably benign	Het
Kcnj1	A	G	9: 32,308,277 (GRCm39)	T234A	possibly damaging	Het
Kpna3	T	A	14: 61,605,635 (GRCm39)	N470I	probably benign	Het
Lamb2	T	C	9: 108,364,522 (GRCm39)	F1121L	probably damaging	Het
Lingo1	T	C	9: 56,527,911 (GRCm39)	D232G	probably benign	Het
Lpxn	T	A	19: 12,788,622 (GRCm39)	N70K	probably benign	Het
Ltbp4	T	A	7: 27,004,852 (GRCm39)	H1657L	probably damaging	Het
Luzp2	C	A	7: 54,915,078 (GRCm39)	F334L	possibly damaging	Het
Mgat5b	A	T	11: 116,835,785 (GRCm39)	S142C	possibly damaging	Het
Mroh7	G	A	4: 106,568,517 (GRCm39)	T396I	probably benign	Het
Muc5b	T	C	7: 141,417,487 (GRCm39)	S3478P	probably benign	Het
Nfatc2	A	T	2: 168,349,269 (GRCm39)	M626K	probably benign	Het
Nlrp14	A	G	7: 106,782,255 (GRCm39)	D484G	possibly damaging	Het
Npc1	T	C	18: 12,344,601 (GRCm39)	Y423C	probably damaging	Het
Nrsn1	A	G	13: 25,437,388 (GRCm39)	I180T	probably damaging	Het
Or11g25	A	T	14: 50,723,025 (GRCm39)	I37F	probably benign	Het
Or51a8	T	A	7: 102,549,842 (GRCm39)	N89K	probably benign	Het
Osbpl6	A	T	2: 76,426,225 (GRCm39)	I935F	probably benign	Het
Otog	T	C	7: 45,947,689 (GRCm39)	F96L	probably damaging	Het
Pde1b	T	C	15: 103,436,745 (GRCm39)	L534P	possibly damaging	Het
Pdzd8	C	T	19: 59,288,125 (GRCm39)	E1092K	probably damaging	Het
Pfkl	T	C	10: 77,837,249 (GRCm39)	H108R	probably benign	Het
Pkhd1l1	G	A	15: 44,421,372 (GRCm39)	V3047I	probably benign	Het
Plag1	A	T	4: 3,904,812 (GRCm39)	C126*	probably null	Het
Pphln1	T	A	15: 93,353,406 (GRCm39)	S229T	probably benign	Het
Psd3	A	G	8: 68,166,390 (GRCm39)	V915A	probably benign	Het
Ptdss1	T	A	13: 67,093,391 (GRCm39)	I77N	probably benign	Het
Rsbn1	T	A	3: 103,821,892 (GRCm39)	C3*	probably null	Het
Shank1	C	T	7: 43,976,585 (GRCm39)	A561V	unknown	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Sv2c	A	T	13: 96,113,152 (GRCm39)	V599E	probably damaging	Het
Vmn2r37	T	C	7: 9,220,898 (GRCm39)	T322A	probably benign	Het
Vmn2r60	T	A	7: 41,786,487 (GRCm39)	M430K	probably benign	Het
Wipf3	T	A	6: 54,458,904 (GRCm39)		probably null	Het

Other mutations in Pramel5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Pramel5	APN	4	143,998,191 (GRCm39)	missense	probably damaging	1.00
IGL00990:Pramel5	APN	4	144,000,549 (GRCm39)	missense	probably damaging	1.00
IGL01070:Pramel5	APN	4	143,997,842 (GRCm39)	missense	probably damaging	1.00
IGL01298:Pramel5	APN	4	143,997,732 (GRCm39)	utr 3 prime	probably benign
IGL01653:Pramel5	APN	4	144,000,429 (GRCm39)	missense	probably benign	0.01
IGL02150:Pramel5	APN	4	143,999,771 (GRCm39)	missense	possibly damaging	0.93
IGL02278:Pramel5	APN	4	143,998,121 (GRCm39)	missense	probably damaging	1.00
IGL02671:Pramel5	APN	4	143,999,682 (GRCm39)	missense	probably benign	0.25
IGL02868:Pramel5	APN	4	143,997,922 (GRCm39)	missense	probably benign	0.03
IGL02981:Pramel5	APN	4	143,999,430 (GRCm39)	missense	probably benign	0.01
R0532:Pramel5	UTSW	4	143,999,310 (GRCm39)	missense	probably benign	0.03
R0646:Pramel5	UTSW	4	143,998,190 (GRCm39)	missense	probably damaging	1.00
R1328:Pramel5	UTSW	4	143,998,058 (GRCm39)	missense	probably damaging	1.00
R1902:Pramel5	UTSW	4	144,000,433 (GRCm39)	nonsense	probably null
R2027:Pramel5	UTSW	4	143,998,274 (GRCm39)	missense	probably damaging	1.00
R2240:Pramel5	UTSW	4	143,999,506 (GRCm39)	nonsense	probably null
R2439:Pramel5	UTSW	4	144,000,310 (GRCm39)	missense	probably benign	0.01
R3922:Pramel5	UTSW	4	143,999,622 (GRCm39)	missense	probably damaging	1.00
R4470:Pramel5	UTSW	4	143,997,915 (GRCm39)	missense	possibly damaging	0.89
R4808:Pramel5	UTSW	4	143,999,325 (GRCm39)	missense	probably benign	0.04
R4969:Pramel5	UTSW	4	143,998,187 (GRCm39)	missense	probably damaging	1.00
R5195:Pramel5	UTSW	4	143,998,311 (GRCm39)	missense	probably benign	0.01
R5198:Pramel5	UTSW	4	144,000,064 (GRCm39)	intron	probably benign
R5930:Pramel5	UTSW	4	143,999,553 (GRCm39)	missense	probably benign	0.43
R5988:Pramel5	UTSW	4	143,999,716 (GRCm39)	missense	possibly damaging	0.46
R6662:Pramel5	UTSW	4	143,999,675 (GRCm39)	missense	probably benign	0.32
R6988:Pramel5	UTSW	4	144,000,577 (GRCm39)	start gained	probably benign
R7638:Pramel5	UTSW	4	143,998,010 (GRCm39)	missense	possibly damaging	0.93
R8247:Pramel5	UTSW	4	143,999,395 (GRCm39)	missense	probably damaging	1.00
R8993:Pramel5	UTSW	4	143,999,529 (GRCm39)	missense	possibly damaging	0.81
R9049:Pramel5	UTSW	4	144,000,486 (GRCm39)	missense	probably benign	0.02
R9402:Pramel5	UTSW	4	143,998,026 (GRCm39)	missense	probably benign	0.15
R9632:Pramel5	UTSW	4	143,999,545 (GRCm39)	missense	probably benign	0.15
R9710:Pramel5	UTSW	4	143,999,545 (GRCm39)	missense	probably benign	0.15
X0028:Pramel5	UTSW	4	143,999,406 (GRCm39)	missense	probably benign	0.00
Z1176:Pramel5	UTSW	4	144,000,430 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GACTCACATACCTAGGTCGATCC -3'
(R):5'- AGTGATTGGTCCTCTGCCTG -3'

Sequencing Primer
(F):5'- CGATCCTTTTGTGACATCAGCAAATC -3'
(R):5'- AAGAGGCTTGCTAAAAGTGTTTG -3'

Posted On

2019-05-15